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NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(2);Pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Aug 5, 2021)
Last evaluated:
Apr 9, 2021
Accession:
VCV000222635.7
Variation ID:
222635
Description:
single nucleotide variant
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NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser)

Allele ID
224582
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq26.3
Genomic location
X: 136209946 (GRCh38) GRCh38 UCSC
X: 135292105 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_739:g.67547G>C
LRG_739t1:c.812G>C LRG_739p1:p.Cys271Ser
LRG_739t2:c.964G>C LRG_739p2:p.Ala322Pro
... more HGVS
Protein change
A322P, C255S, C271S, C284S, A209P, A193P
Other names
-
Canonical SPDI
NC_000023.11:136209945:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA351843
dbSNP: rs869025431
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Nov 6, 2015 RCV000208197.1
Pathogenic 2 criteria provided, single submitter Jul 1, 2020 RCV000822468.4
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Apr 9, 2021 RCV000263325.4

Clinical features observed in individuals with this variant

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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FHL1 - - GRCh38
GRCh37
249 425

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 06, 2015)
criteria provided, single submitter
Method: clinical testing
Primary familial hypertrophic cardiomyopathy
Allele origin: germline
Blueprint Genetics
Accession: SCV000263935.2
Submitted: (Jan 15, 2016)
Evidence details
Uncertain significance
(Jan 22, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000338505.3
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(Jul 01, 2020)
criteria provided, single submitter
Method: clinical testing
Myopathy with postural muscle atrophy, X-linked
Allele origin: germline
Invitae
Accession: SCV000963270.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces cysteine with serine at codon 255 of the FHL1 protein (p.Cys255Ser). The cysteine residue is moderately conserved and there is a … (more)
Likely pathogenic
(Apr 09, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001774078.1
Submitted: (Aug 05, 2021)
Evidence details
Comment:
Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; … (more)
not provided
(-)
no assertion provided
Method: phenotyping only
Myopathy with postural muscle atrophy, X-linked
Allele origin: unknown
GenomeConnect, ClinGen
Accession: SCV001423261.1
Submitted: (Apr 20, 2020)
Evidence details
Comment:
Variant interpretted as Likely pathogenic and reported on 01-11-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Unclassifiable arrhythmic cardiomyopathy associated with Emery-Dreifuss caused by a mutation in FHL1. San Román I Clinical genetics 2016 PMID: 26857240
X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene. D'Arcy C Journal of child neurology 2015 PMID: 25246303
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=FHL1 - - - -

Text-mined citations for rs869025431...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 23, 2021